Card kit

Invitae Comprehensive Neuropathies Panel

Test code: 03200 •

Test description

The Invitae Comprehensive Neuropathies Panel analyzes genes that are associated with hereditary neuropathies, including but not limited to Charcot-Marie-Tooth disease (CMT), hereditary motor neuropathy (HMN), and hereditary sensory and autonomic neuropathy (HSAN). The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for hereditary neuropathies. Given the clinical overlap of hereditary neuropathies, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

Disorders tested

Broad disorders tested:

  • Charcot-Marie-Tooth Disease
  • Hereditary Motor Neuropathy
  • Hereditary Sensory and Autonomic Neuropathy
  • Small Fiber Neuropathy
  • Riboflavin Transporter Deficiency Neuronopathy
  • Hereditary Transthyretin-Mediated Amyloidosis
  • Spinal Muscular Atrophy

Individual disorders tested:

  • Charcot-Marie-Tooth Disease (CMT) Subtypes
  • BAG3-related Charcot-Marie-Tooth disease
  • Charcot Marie Tooth disease type 2 (CMT2)
  • Charcot-Marie-Tooth disease D (CMTRID)
  • Charcot-Marie-Tooth disease type 1A (CMT1A), type 1E (CMT1E), hereditary neuropathy with liability to pressure palsies (HNPP)
  • Charcot-Marie-Tooth disease type 1B (CMT1B), type 2I (CMT2I), type 2J (CMT2J), dominant intermediate (DI-CMTD)
  • Charcot-Marie-Tooth disease type 1C (CMT1C)
  • Charcot-Marie-Tooth disease type 1D (CMT1D), type 3 (CMT3), Dejerine-Sottas syndrome, type 4E (CMT4E), congenital hypomyelinating neuropathy
  • Charcot-Marie-Tooth disease type 1F (CMT1F), type 2E (CMT2E)
  • Charcot-Marie-Tooth disease type 1G (CMT1G)
  • Charcot-Marie-Tooth disease type 1X (CMT1X)
  • Charcot-Marie-Tooth disease type 2A (CMT2A), type 6A (CMT6A)
  • Charcot-Marie-Tooth disease type 2B (CMT2B)
  • Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
  • Charcot-Marie-Tooth disease type 2C (CMT2C)
  • Charcot-Marie-Tooth disease type 2CC (CMT2CC)
  • Charcot-Marie-Tooth disease type 2D (CMT2D)
  • Charcot-Marie-Tooth disease type 2DD (CMT2DD)
  • Charcot-Marie-Tooth disease type 2F (CMT2F)
  • Charcot-Marie-Tooth disease type 2K (CMT2K), type 4A (CMT4A), recessive intermediate A (CMTRIA)
  • Charcot-Marie-Tooth disease type 2L (CMT2L)
  • Charcot-Marie-Tooth disease type 2M (CMT2M), type B (CMTDIB)
  • Charcot-Marie-Tooth disease type 2N (CMT2N)
  • Charcot-Marie-Tooth disease type 2O (CMT2O)
  • Charcot-Marie-Tooth disease type 2P (CMT2P)
  • Charcot-Marie-Tooth disease type 2Q (CMT2Q)
  • Charcot-Marie-Tooth disease type 2S (CMT2S)
  • Charcot-Marie-Tooth disease type 2T (CMT2T)
  • Charcot-Marie-Tooth disease type 2U (CMT2U)
  • Charcot-Marie-Tooth disease type 2X (CMT2X)
  • Charcot-Marie-Tooth disease type 2Z (CMT2Z)
  • Charcot-Marie-Tooth disease type 4 (CMTX4), Cowchock syndrome
  • Charcot-Marie-Tooth disease type 4B1 (CMT4B1)
  • Charcot-Marie-Tooth disease type 4B2 (CMT4B2)
  • Charcot-Marie-Tooth disease type 4B3 (CMT4B3)
  • Charcot-Marie-Tooth disease type 4C (CMT4C)
  • Charcot-Marie-Tooth disease type 4D (CMT4D)
  • Charcot-Marie-Tooth disease type 4F (CMT4F)
  • Charcot-Marie-Tooth disease type 4H (CMT4H)
  • Charcot-Marie-Tooth disease type 4J (CMT4J)
  • Charcot-Marie-Tooth disease type 4K (CMT4K)
  • Charcot-Marie-Tooth disease type 5 (CMTX5)
  • Charcot-Marie-Tooth disease type 6 (CMTX6)
  • Charcot-Marie-Tooth disease type 6B (CMT6B), hereditary motor and sensory neuropathy type VIB (HMSN6B)
  • Charcot-Marie-Tooth disease type C (CMTDIC)
  • Charcot-Marie-Tooth disease type C (CMTRIC)
  • Charcot-Marie-Tooth disease type E (CMT-DIE)
  • Charcot-Marie-Tooth disease type F (CMTDIF)
  • Charcot-Marie-Tooth disease, type 2R (CMT2R)
  • Charcot-Marie-Tooth disease, type 2W (CMT2W)
  • DRP2-associated Charcot-Marie-Tooth disease
  • Hereditary Motor Neuropathies (HMN) Subtypes
  • ATP7A-related distal hereditary motor neuropathy
  • distal hereditary motor neuropathy 2A (HMN2A)
  • distal hereditary motor neuropathy 2B (HMN2B)
  • distal hereditary motor neuropathy 2D (HMN2D)
  • distal hereditary motor neuropathy 5 (HMN5)
  • distal hereditary motor neuropathy 5B (HMN5B)
  • distal hereditary motor neuropathy 6 (HMN6), spinal muscular atrophy with respiratory distress 1 (SMARD1)
  • distal hereditary motor neuropathy 7 (HMN7A)
  • distal hereditary motor neuropathy 8 (HMN8), scapuloperoneal spinal muscular atrophy (SPSMA)
  • distal hereditary motor neuropathy type VIIB (HMN7B)
  • distal spinal muscular atrophy 2 (DSMA2)
  • distal spinal muscular atrophy 4 (DSMA4)
  • distal spinal muscular atrophy 5 (DSMA5)
  • late-onset spinal muscular atrophy, Finkel type (SMAFK)
  • lower extremity predominant spinal muscular atrophy 1 (SMALED1)
  • polyarticular arthritis and spinal muscular atrophy, spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), Jankovic Rivera syndrome
  • spinal muscular atrophy (SMA)
  • spinal muscular atrophy 2 (SMAX2)
  • spinal muscular atrophy with or without pontocerebellar hypoplasia type 1A (PCH1A)
  • spinal muscular atrophy, Jokela type (SMAJ)
  • spinal muscular atrophy, lower extremity predominant 2 (SMALED2)
  • Hereditary Sensory and Autonomic Neuropathy (HSAN) Subtypes
  • congenital insensitivity to pain with anhidrosis (CIPA), hereditary sensory and autonomic neuropathy type 4 (HSAN4)
  • familial dysautonomia (FD), hereditary sensory and autonomic neuropathy type 3 (HSAN3)
  • hereditary sensory and autonomic neuropathy type 1A (HSAN1A)
  • hereditary sensory and autonomic neuropathy type 1C (HSAN1C)
  • hereditary sensory and autonomic neuropathy type 2A (HSAN2A)
  • hereditary sensory and autonomic neuropathy type 2B (HSAN2B)
  • hereditary sensory and autonomic neuropathy type 2D (HSAN2D), paroxysmal extreme pain disorder (PEXPD), primary erythromelalgia, small fiber neuropathy
  • hereditary sensory and autonomic neuropathy type 5 (HSAN5)
  • hereditary sensory and autonomic neuropathy type 6 (HSAN6)
  • hereditary sensory and autonomic neuropathy type 7 (HSAN7), familial episodic pain syndrome type 3 (FEPS3)
  • hereditary sensory and autonomic neuropathy type 8 (HSAN8)
  • Hereditary Sensory Neuropathy (HSN) Subtypes
  • hereditary sensory neuropathy type 1D (HSN1D)
  • hereditary sensory neuropathy type 1E (HSN1E)
  • hereditary sensory neuropathy type 1F (HSN1F)
  • hereditary sensory neuropathy type 2C (HSN2C)
  • Riboflavin Transporter Deficiency
  • riboflavin transporter deficiency neuronopathy, Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
  • riboflavin transporter deficiency neuronopathy, Brown-Vialetto-Van Laere syndrome 2 (BVVLS2)
  • Neuropathic Amyloidosis
  • amyloidosis, Finnish type
  • hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
  • APOA1-related systemic amyloidosis
  • Other Disorders
  • acute intermittent porphyria (AIP)
  • agenesis of the corpus callosum with peripheral neuropathy (ACCPN), Andermann syndrome
  • Alpers-Huttenlocher syndrome (AHS), ataxia neuropathy spectrum (ANS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), progressive external ophthalmoplegia (arPEO), progressive external ophthalmoplegia with mitochondrial DNA deletions (adPEO)
  • cerebrotendinous xanthomatosis (CTX)
  • Fabry disease
  • giant axonal neuropathy 1 (GAN1)
  • hereditary motor and sensory neuropathy, Okinawa type (HMSNO)
  • hereditary neuralgic amyotrophy
  • hereditary neuropathy with or without age-related macular degeneration (HNARMD)
  • hereditary spastic paraplegia type 5A (SPG5A)
  • neuromyotonia and axonal neuropathy (NMAN)
  • peripheral neuropathy, with or without impaired intellectual development (PNRIID)
  • POLG2-related syndromic sensory neuropathy, progressive external ophthalmoplegia with mitochondrial deletions 4 (PEOA4)
  • pontocerebellar hypoplasia type 1D (PCH1D)
  • Tay-Sachs disease, beta-hexosaminidase A (HEXA) deficiency

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

To view the complete clinical description of this panel, click here.

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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Primary panel

102 genes selected
AARS
AIFM1
APOA1
ASAH1
ATL1
ATL3
ATP1A1
ATP7A
BAG3
BICD2
BSCL2
CHCHD10
COX6A1
CYP27A1
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9 genes

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

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